Variant | Gene | N. diseases v | DSI v | DPI v | Chr | Position | Consequence | Alleles | Class | AF EXOME | AF GENOME | Score vda | EI vda | N. PMIDs | First Ref. | Last Ref. | ||
---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
|
64 | 0.576 | 0.800 | 4 | 71752617 | missense variant | A/C;T | snv | 0.52; 4.0E-06 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
95 | 0.559 | 0.600 | 6 | 154039662 | missense variant | A/G | snv | 0.19 | 0.12 | 0.010 | 1.000 | 1 | 2013 | 2013 | |||
|
4 | 0.882 | 0.080 | 4 | 38790903 | non coding transcript exon variant | A/G | snv | 0.32 | 0.010 | 1.000 | 1 | 2012 | 2012 | ||||
|
223 | 0.438 | 0.800 | 9 | 117713024 | missense variant | A/G;T | snv | 6.1E-02; 4.0E-06 | 0.090 | 0.778 | 9 | 2004 | 2015 | ||||
|
34 | 0.641 | 0.600 | 6 | 31572536 | intron variant | A/G;T | snv | 0.010 | 1.000 | 1 | 2009 | 2009 | |||||
|
182 | 0.456 | 0.840 | 9 | 117713324 | missense variant | C/T | snv | 5.7E-02 | 4.9E-02 | 0.070 | 0.857 | 7 | 2004 | 2015 | |||
|
23 | 0.695 | 0.400 | 5 | 148827322 | missense variant | C/T | snv | 9.1E-03 | 9.1E-03 | 0.010 | 1.000 | 1 | 2015 | 2015 | |||
|
4 | 0.851 | 0.080 | 12 | 68158711 | intron variant | CGAG/- | delins | 0.010 | 1.000 | 1 | 2014 | 2014 | |||||
|
169 | 0.472 | 0.920 | 6 | 31575254 | upstream gene variant | G/A | snv | 0.12 | 0.14 | 0.010 | 1.000 | 1 | 2009 | 2009 | |||
|
48 | 0.620 | 0.720 | 3 | 39265671 | missense variant | G/A | snv | 0.14 | 0.12 | 0.010 | 1.000 | 1 | 2006 | 2006 | |||
|
5 | 0.851 | 0.120 | 5 | 135892476 | missense variant | G/A;C | snv | 0.11 | 0.010 | 1.000 | 1 | 2010 | 2010 | ||||
|
53 | 0.597 | 0.720 | 4 | 71752606 | missense variant | G/A;T | snv | 1.6E-05; 0.25 | 0.010 | 1.000 | 1 | 2014 | 2014 | ||||
|
1 | 1.000 | 9 | 131129441 | missense variant | T/A | snv | 0.010 | 1.000 | 1 | 2017 | 2017 | ||||||
|
3 | 0.925 | 0.080 | 5 | 135896167 | upstream gene variant | T/C;G | snv | 7.2E-02 | 0.010 | 1.000 | 1 | 2010 | 2010 |